Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.

Frontiers in immunology - 1 Jan 2018

Pellegrino Marsha, Bellacchio Emanuele, Dhamo Rudina, Frasca Federica, Betterle Corrado, Fierabracci Alessandra

Abstract excerpt

Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the diagnosis of APECED are the presence of two of the following disorders: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CHP), and Addison's disease. APECED develops at high incidence in Finns,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to AIRE Protein
Share to Autoantibodies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Consanguinity

Share to Homozygote

Share to Iodide Peroxidase

Share to Pakistan

Share to Polyendocrinopathies, Autoimmune

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 30150985
DOI: 10.3389/fimmu.2018.01835
PMCID: PMC6099424

Genes

AIRE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.PMID 30150985Read ↗

Novel homozygous AIRE mutation in a German patient with severe APECED.Semantic proximity Read ↗

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.Semantic proximity Read ↗

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.Semantic proximity Read ↗

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.Semantic proximity Read ↗

APECED in Turkey: A case report and insights on genetic and phenotypic variability.Semantic proximity Read ↗

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.Semantic proximity Read ↗

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.Semantic proximity Read ↗

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.Semantic proximity Read ↗

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.Semantic proximity Read ↗

Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.Semantic proximity Read ↗

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.